Results 171 to 180 of about 27,346,886 (339)

Merlin, the neurofibromatosis type 2 gene product, and ?1 integrin associate in isolated and differentiating Schwann cells

open access: green, 1998
Valerie J. Obremski   +2 more
openalex   +2 more sources

Clinicopathological Characteristics and Outcomes of Genitourinary Rhabdomyosarcoma in Two Girls

open access: yesClinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Rhabdomyosarcoma (RMS) is a soft tissue neoplasm accounting for about 8% of solid tumors in children. There are mainly four histologic subtypes of RMS: embryonal, alveolar, spindle cell/sclerosing, and pleomorphic. The genitourinary tract is the second most affected primary site of RMS. Genitourinary RMS is more common in young boys than girls.
George Evele   +3 more
wiley   +1 more source

Fatal Tension Hemothorax Combined with Exanguination: A Rare Complication of Neurofibromatosis [PDF]

open access: yes, 2019
Neurofibromatosis (NF) is a common autosomal dominant disorder that can be subdivided into type 1, type 2, and schwannomatosis. Patients with NF1 typically develop café-au-lait spots, scoliosis, and benign neurofibromas.
Bidad, Roz, Blohm, Eike, Hall, Caroline
core  

EPID-18THE ASSOCIATION BETWEEN ALLERGIC CONDITIONS AND PEDIATRIC BRAIN TUMORS IN NEUROFIBROMATOSIS TYPE 1 [PDF]

open access: bronze, 2015
Kimberly Johnson   +4 more
openalex   +1 more source

Analysis of Real‐World Data Utilization in the Orphan Drug Approval Process: Focusing on New Drug Marketing Applications Submitted to the FDA

open access: yesClinical Pharmacology &Therapeutics, Volume 119, Issue 5, Page 1340-1349, May 2026.
In the field of rare diseases—where traditional clinical trials are often impractical—real‐world data (RWD) have emerged as a scientifically valid alternative to support regulatory decision making. This study systematically evaluates the utilization of RWD in orphan drug approvals by the FDA Center for Drug Evaluation and Research (CDER) over the past ...
Minji Kim, Eunjin Hong
wiley   +1 more source

A prospective study of neurofibromatosis type 1 cancer incidence in the UK [PDF]

open access: hybrid, 2006
Lyndon Walker   +6 more
openalex   +1 more source

Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome [PDF]

open access: hybrid, 2020
Alessandra D’Amico   +9 more
openalex   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review

open access: yesBritish Journal of Pharmacology, Volume 183, Issue 9, Page 1779-1813, May 2026.
Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos   +16 more
wiley   +1 more source

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